A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.
8q21.11 microdeletion syndrome
Autism
Clinical exome sequencing
Intellectual disability
ZFHX4
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
received:
13
03
2021
revised:
27
07
2021
accepted:
22
08
2021
pubmed:
31
8
2021
medline:
13
1
2022
entrez:
30
8
2021
Statut:
ppublish
Résumé
Several patients with chromosomal deletions including ZFHX4 gene have been described, whereas point mutations are very rare. This gene encodes for a transcription factor involved in the development of several embryonal processes, including brain differentiation. Patients with 8q21.11 deletions usually show intellectual disability, short stature, peculiar facial features, and severe eye abnormalities. We describe a female patient with mild intellectual disability, autism spectrum disorder, strabismus, ptosis, low-set and prominent ears, high-arched palate, microretrognathia. Clinical Exome Sequencing revealed the presence of a de novo heterozygous variant in ZFHX4. Therefore, we further investigate the different phenotypes of ZFHX4 mutations and 8q21.11 deletions.
Identifiants
pubmed: 34461323
pii: S1769-7212(21)00187-7
doi: 10.1016/j.ejmg.2021.104321
pii:
doi:
Substances chimiques
Homeodomain Proteins
0
Transcription Factors
0
ZFHX4 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104321Informations de copyright
Copyright © 2021 Elsevier Masson SAS. All rights reserved.